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目的 获得 D15 S6 5 7、D11S136 9、D6 S2 42 0、D6 S5 0 3位点在中国成都汉族人群中的群体遗传数据 ,并研究上述 4种短串联重复序列 (short tandem repeats,STR)的多态性与胰岛素依赖型糖尿病(insulin- dependent diabetes mellitus,IDDM)的关系。方法 应用 PCR- polyacrylamide gel electrophoresis(PAGE)结合产物直接测序的技术 ,对 10 5名无亲缘关系的成都地区正常汉族人和 48例 IDDM患者的上述 4种 STR的多态性进行分析。结果 D15 S6 5 7位点发现 7种等位基因 ,D11S136 9位点发现 5种等位基因 ,D6 S2 42 0位点发现 7种等位基因 ,D6 S5 0 3位点发现 4种等位基因 ;4个 STR位点的基因型分布均符合Hardy- Weinberg平衡 ,杂合度分别为 0 .75 2 4、0 .6 0 0 0、0 .6 2 86、0 .6 5 71,多态信息量分别为 0 .76 16、0 .44 30、0 .5 345、0 .5 932。在 IDDM组中 ,D15 S6 5 7的等位基因 A5 ,D11S136 9的等位基因 A5 和 D6 S2 42 0的等位基因 A4的频率显著高于正常对照组 (P值校正值均小于 0 .0 5 )。结论 4个 STR均适合作为疾病关联分析、法医学鉴定和人类遗传学研究的遗传标记 ;中国汉族人群中 D15 S6 5 7、D11S136 9、D6 S2 42 0的多态性与IDDM相关。
Objective To obtain the population genetic data of D15 S6 5 7, D11S136 9, D6 S2 42 0 and D6 S5 0 3 loci in Chengdu, China, and to study the distribution of the above four short tandem repeats (STRs) Relationship with insulin-dependent diabetes mellitus (IDDM). Methods PCR-polyacrylamide gel electrophoresis (PAGE) combined with direct sequencing technology was used to analyze the polymorphisms of the four STRs in 105 unrelated unrelated healthy Han Chinese and 48 IDDM patients in Chengdu. Results Seven kinds of alleles were found in the 7 loci of D15 S6, five alleles were found in the 9 loci of D11S136, seven kinds of alleles were found in the locus D6 S2 42 0, and four alleles were found in the locus D6 S5 0 3 ; The genotypes of 4 STR loci all fit Hardy-Weinberg equilibrium with heterozygosity of 0 .75 2 4, 0 6 0 0 0, 6 2 86, 0 6 6 71, polymorphic information Respectively 0 .76 16,0 .44 30,0 .5 345,0 .5 932. In the IDDM group, allele A5 of D15 S6 5 7, allele A5 of D11S136 9 and allele A4 of D6 S2 42 0 were significantly higher than those of the normal control group (P-value correction values were less than 0 .0 5). Conclusion All four STRs are suitable as genetic markers for disease association analysis, forensic identification and human genetics. The polymorphisms of D15 S6 5 7, D11S136 9 and D6 S2 42 0 in Chinese Han population are related to IDDM.